title: Coinheritance of a novel mutation on the HBA1 gene: c.187delG (p.W62fsX66) [codon 62 (-G) (α1)] with the α212 patchwork allele and Hb S [β6(A3)Glu→Val, GAG>GTG; HBB: c.20A>T].
abstract: We describe a novel frameshift mutation on the HBA1 gene (c.187delG), causative of α-thalassemia (α-thal) in a Black Cuban family with multiple sequence variants in the HBA genes and the Hb S [β6(A3)Glu→Val, GAG>GTG; HBB: c.20A>T] mutation. The deletion of the first base of codon 62 resulted in a frameshift at amino acid 62 with a putative premature termination codon (PTC) at amino acid 66 on the same exon (p.W62fsX66), which most likely triggers nonsense mediated decay of the resulting mRNA. This study also presents the first report of the α212 patchwork allele in Latin America and the description of two new sequence variants in the HBA2 region (c.-614G>A in the promoter region and c.95+39 C>T on the first intron).
authors.affiliation: Cátedra de Genética y Biología Molecular, Facultad de Farmacia y Bioquímica, Universidad de Buenos Aires, Ciudad Autónoma de Buenos Aires, Buenos Aires, Argentina.
authors.forename: Karen G
authors.initials: KG
authors.lastname: Scheps
authors.forename: Silvia M
authors.initials: SM
authors.lastname: De Paula
authors.forename: Alicia R
authors.initials: AR
authors.lastname: Bitsman
authors.forename: Daniel H
authors.initials: DH
authors.lastname: Freigeiro
authors.forename: F Nora
authors.initials: FN
authors.lastname: Basack
authors.forename: Sandra P
authors.initials: SP
authors.lastname: Pennesi
authors.forename: Viviana
authors.initials: V
authors.lastname: Varela
mesh_terms: D000328:Adult; D000483:Alleles; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D016368:Frameshift Mutation; D006442:Glycated Hemoglobin / Q000235:genetics*; D006441:Hemoglobin A / Q000235:genetics*; D006443:Hemoglobin A2 / Q000235:genetics; D006451:Hemoglobin, Sickle / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D055815:Young Adult
chemical_list: D006442:Glycated Hemoglobin; D006441:Hemoglobin A; D006443:Hemoglobin A2; D006451:Hemoglobin, Sickle